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Barbara Lunghi on Muck Rack

Barbara Lunghi

As seen in: Wiley Online Library, MDPI
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Articles

IJMS | Free Full-Text | Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction

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By Barbara Lunghi, Nicole Ziliotto, Dario Balestra, Lucrezia Rossi
| MDPI
2. Results A schematic flow chart of methodology and data analysis is shown in Figure 1. The family under study (Figure S1) was selected for genetic analysis by WES based on the documented venous thromboembolism in three family members, negative routine thrombophilia testing and absence of conditions (smoking, diabetes, obesity and sedentary lifestyle) that might have favored VTE.
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Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors

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By Massimo Morfini, Italian Muslim Association, Nicola Martinelli, Barbara Lunghi
| Wiley Online Library Verified
Abstract Introduction Gene variation in receptors for circulating factor VIII (FVIII) is candidate to explain the large inter-patient variability of infused FVIII pharmacokinetics (PK) in haemophilia A (HA). Aim To compare in an Italian HA cohort (n = 26) the influence on FVIII PK of genetic components in four von Willebrand factor (VWF)/FVIII receptors.
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